Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000631296 | SCV000752324 | likely benign | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2023-02-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001013851 | SCV001174486 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |